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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:congenital disorder of glycosylation Ia
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Accession:DOID:0080552 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13. (DO)
Synonyms:exact_synonym: CDG Ia;   CDG1A;   CDGIa;   Carbohydrate-Deficient Glycoprotein Syndrome Type Ia;   Congenital Disorder of Glycosylation Type 1A;   Congenital Disorder of Glycosylation Type Ia;   Jaeken syndrome;   PMM2-congenital disorder of glycosylation;   carbohydrate-deficient glycoprotein syndrome type 1A;   congenital disorder of glycosylation 1a;   phosphomannomutase 2 deficiency
 primary_id: MESH:C535739
 alt_id: OMIM:212065;   RDO:0001027
 xref: GARD:9826;   NCI:C126868;   ORDO:79318
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
congenital disorder of glycosylation Ia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1A ClinVar PMID:28492532 NCBI chr10:7,093,406...7,200,439
Ensembl chr10:7,093,405...7,200,499
JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:19207313 RGD:12910858 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igf2 insulin-like growth factor 2 ISO RGD PMID:19207313 RGD:12910858 NCBI chr 1:215,828,102...215,839,081
Ensembl chr 1:215,828,102...215,846,911
JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO RGD PMID:19207313 RGD:12910858 NCBI chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 ISO RGD PMID:19207313 RGD:12910858 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Pmm2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ia
ClinVar Annotator: match by term: Phosphomannomutase 2 deficiency
ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1A
ClinVar Annotator: match by OMIM:212065
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9140401, PMID:9497260, PMID:9710598, PMID:9781039, PMID:10066032, PMID:10386614, PMID:10527672, PMID:10571009, PMID:10571956, PMID:10602363, PMID:10801058, PMID:10854097, PMID:10922383, PMID:11058895, PMID:11058896, PMID:11134235, PMID:11148191, PMID:11156536, PMID:11343337, PMID:11409861, PMID:11517108, PMID:11589167, PMID:11715002, PMID:11875054, PMID:11891694, PMID:11916319, PMID:12297897, PMID:12357336, PMID:12529711, PMID:12607543, PMID:12626389, PMID:12705494, PMID:12905014, PMID:13129599, PMID:15272470, PMID:15277997, PMID:15520415, PMID:15645285, PMID:15714316, PMID:15844218, PMID:16085795, PMID:16376131, PMID:16435227, PMID:16540464, PMID:16825284, PMID:16941129, PMID:17158594, PMID:17166182, PMID:17186415, PMID:17307006, PMID:17308246, PMID:17920054, PMID:18093857, PMID:18203160, PMID:18485644, PMID:18571450, PMID:18629883, PMID:18948042, PMID:19101518, PMID:19165618, PMID:19168813, PMID:19235233, PMID:19357119, PMID:19396570, PMID:19862844, PMID:20301289, PMID:20638314, PMID:21228398, PMID:21539312, PMID:21541725, PMID:21937992, PMID:21949237, PMID:22012410, PMID:22223895, PMID:22649348, PMID:22801829, PMID:22814378, PMID:23045520, PMID:23430838, PMID:23430905, PMID:23430927, PMID:23806237, PMID:23988505, PMID:24033266, PMID:24037084, PMID:24139637, PMID:24498599, PMID:24739649, PMID:25326635, PMID:25355454, PMID:25497157, PMID:25525159, PMID:25681648, PMID:25741868, PMID:26014514, PMID:26206375, PMID:26488408, PMID:26502900, PMID:26629787, PMID:26805780, PMID:26887550, PMID:27053713, PMID:27415628, PMID:28122681, PMID:28139241, PMID:28373276, PMID:28425223, PMID:28454995, PMID:28492532, PMID:28807751, PMID:28820871, PMID:28915903, PMID:28940310, PMID:29361989, PMID:29470411, PMID:30061496, PMID:30311386, PMID:30687093, PMID:30740725, PMID:32581362 NCBI chr10:7,056,258...7,077,443
Ensembl chr10:7,056,266...7,077,443
JBrowse link
G Tmem186 transmembrane protein 186 ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1A ClinVar PMID:28492532 NCBI chr10:7,077,488...7,080,806
Ensembl chr10:7,077,488...7,080,798
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        inherited metabolic disorder 2223
          carbohydrate metabolic disorder 386
            congenital disorder of glycosylation 119
              congenital disorder of glycosylation type I 68
                congenital disorder of glycosylation Ia 7
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          inherited metabolic disorder 2223
            carbohydrate metabolic disorder 386
              congenital disorder of glycosylation 119
                congenital disorder of glycosylation type I 68
                  congenital disorder of glycosylation Ia 7
paths to the root

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